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Table 3 Tumours observed in patients with bi-allelic MMR gene germline mutations

From: Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Tumour type MLH1 mean age (range), N MSH2 mean age (range), N MSH6 mean age (range), N PMS2 mean age (range), N
Acute leukaemia 2, 1/14    
Acute myeloid leukaemia 6, 1/14   7, 1/15  
Atypical chronic myeloid leukaemia 1, 1/14    
B-acute lymphatic leukaemia     10 (10), 1/43
T-acute lymphatic leukaemia/T cell leukaemia   2, 1/7   2 (2), 1/43
Lymphoblastic lymphoma    5, 1/15 9 (6-15), 3/43
NHL/T-cell lymphoma 3, 1/14 1.7 (1-2), 3/7 10, 1/15 11 (3-17), 4/43
Small bowel carcinoma, not specified     15.5 (15-16), 2/43
Adenocarcinoma duodenum 11, 1/14    
Breast cancer 35, 1/14    
Colorectal cancer 22 (9-35), 3/14 11.5 (11-12), 2/7 16.6 (8-31), 5/15 15.9 (11-24), 10/43
Endometrial cancer    24, 1/15 23.5 (23-24), 2/43
Brain tumour, not specified     24 (24), 1/43
Glioma 4, 1/14    15 (15), 1/43
Astrocytoma/glioblastoma (multiforme) 4, 1/14 3, 1/7 8 (7-9), 3/15 7.1 (2-17), 8/43
Glioblastoma of the spinal cord    2, 1/15  
Oligodendroglioma    10, 1/15 16.5 (14-19), 2/43
Infantile myofibromatosis     1 (1), 1/43
Medulloblastoma 7, 1/14   7, 1/15  
Neuroblastoma     13 (13), 1/43
Primitive neuroectodermal tumour (PNET) of brain or ovary     11 (4-21), 5/43
Sarcoma 65, 1/14    
Ureter/renal pelvis carcinoma     15 (15), 1/43
Wilms' tumour 4, 1/14    
Total 14 (11 patients) 7 (7 patients) 15 (10 patients) 43 (28 patients)
  1. For each MMR gene and each of the tumours, the mean age at diagnosis is given in years. If more than one tumour was reported for each type then the range of ages at diagnosis is shown between brackets. The number of each of the tumour types observed for a particular MMR gene is shown as number/total of tumours reported for that gene in bi-allelic mutation carriers. Multiple primary tumours were reported frequently and the total number of reported tumours and total number of patients are presented in the last row for each of the genes [2044]